Here is the news fom 2008 Fabry disease news reports ...
An infusion of hope for Fabry disease patients
BY KATIE CHARLES
Wednesday, December 31st 2008, 11:19 AM
The specialist: Dr. Robert Desnick
A geneticist and pediatrician for more than 30 years, Desnick focuses on treating genetic diseases - like Fabry disease - that begin showing symptoms in childhood or adolescence. A professor at Mount Sinai and chairman of its Department of Genetics and Genomic Sciences, he treats patients from around the world, and performs clinical, molecular and biochemical genetics research.
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News Category: Fabry disease news & information
Stem Cells Poised to Grow Organs for Transplant
December 22, 2008 04:47 PM Eastern Daylight Time
Zannos Grekos, MD Presents Clinical Data of Research with Adult Stem Cells to Physicians at International Regenerative Biomedicine Conference
LAS VEGAS, Nev.--(BUSINESS WIRE)
Another patient was successfully treated for cardiac sequelae of Fabry’s Disease, and is also no longer considered for heart transplant. ...
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News Category: Fabry disease news & information
Doctors link ‘fat heart muscles’ to Fabry’s disease
PREVALENT:
Doctors have discovered that babies born in Taiwan have the highest rate of Fabry’s disease in the world, but cannot explain why that is.
Taipei Times By Shelley Huang
STAFF REPORTER
Saturday, Dec 06, 2008, Page 2
Doctors said yesterday that Fabry’s disease, which is more prevalent in Taiwan than in any other country, may be the root cause of hypertrophic cardiomyopathy (HCM), or “fat heart muscles,” an illness that is difficult to pinpoint.
About 7,000 people in Taiwan have been diagnosed with HCM for no obvious reason, said Lin Shing-jong (林幸榮), chief of Taipei Veterans General Hospital’s Division of Cardiology.
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News Category: Fabry disease news & information
CyGene to Launch New Genetic Screening Test
Trading Markets (press release) - Los Angeles,CA,USA
Tue. July 22, 2008; Posted: 09:49 AM
Genetic screening of people in high risk groups is essential in order to identify and then diagnose Fabry disease accurately and at an early stage.
The full article is no longer accessible from the online news provider.
News Category: Fabry disease news & information
Anaesthesiologic protocol for kidney transplantation in two patients with Fabry Disease: a case series
7th Space interactive
Published on: 2008-11-18
Fabry's Disease is a rare genetic syndrome, with a classic X-linked alpha -galactosidase A deficiency phenotype, responsible for glico-sphyngolypids metabolism impairment with clinical effects in several organs and functions. We describe the anaesthesiologic implications of two patients with Fabry disease who underwent a kidney transplantation from a deceased donor.
We recommend careful preoperative evaluation, including cardiac sonography study and spirometry for Fabry disease patients, and according to our experience, we recommend advanced haemodynamic monitoring during surgery. Careful airway examination should be further performed, with particular attention to patient ventilability prediction and available alternative strategies for airway management in case of difficulties.
A nephroprotective strategy and a particular care to the associated end-stage organ disease may significantly improve the long-term outcome of patients with Fabry Disease.
Author: Massimiliano Sorbello, Massimiliano Veroux, Melania Cutuli, Gianluigi Morello, Annalaura Paratore, Mirko T Sidoti, Jessica G Maugeri, Massimiliano Gagliano, Giuseppe Giuffrida, Daniela Corona and Pierfrancesco Veroux
Credits/Source: Cases Journ
News Category: Fabry disease news & information
Amicus Therapeutics Announces Successful Completion of End of Phase 2 Meeting With FDA for Amigal in Fabry Disease
CRANBURY, N.J., Aug. 4 /PRNewswire-FirstCall/ -- Amicus Therapeutics (Nasdaq: FOLD), a biopharmaceutical company developing small molecule, orally-administered pharmacological chaperones for the treatment of human genetic diseases, announced today that it has successfully completed an End of Phase 2 meeting for Amigal(TM) with the U.S. Food and Drug Administration (FDA). The FDA indicated that the data from the completed Phase 2 clinical studies of Amigal support the start of Phase 3 development and agreed that Amigal meets the criteria to be considered for accelerated approval.
The full article is no longer available from the online news provider.
News Category: Fabry disease news & information
Behind the Scenes: The Inside Scoop on LSD Research
On May 17, 2008, Jerry Walter represented the NFDF at a meeting sponsored by the Emory University School of Medicine's Lysosomal Storage Disease (LSD) team (website: http://www.genetics.emory.edu/LSDC/lsdc_index.php).
Patients, family members, physicians, genetic counselors, other Emory staff, and industry representatives from Genzyme, Amicus and Shire gathered to learn and share information about LSD research.
Dr. Paul Fernhoff, MD, the Director of the Emory LSD center and Ms. Dawn Laney, Certified Genetic Counselor and LSD center program leader, the hosts, welcomed participants to begin the day-long meeting. Leading the presentations to the group was Dr. Roscoe Brady, the keynote speaker and renowned LSD researcher.
Dr Brady, who is responsible for many of the early successes leading to Enzyme Replacement Therapy for Fabry disease, provided an informative talk entitled "Past, Present, and Future Approaches to Treatment in LSDs.
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Other morning presentations included topics such as "Overview of Clinical Research: From the lab to your body", "The role of the Institutional Review Board in clinical research', "How to find research trials", "Deciding to participate in research trials: the top ten questions to ask yourself and your researchers", and a panel discussion with patient panel members who have participated in clinical trials for various diseases including a participant for Fabry disease.
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The afternoon offered an opportunity for disease specific breakout sessions where support organizations and industry participants provided talks from a support group perspective and about specific research initiatives respectively.
Amicus Therapeutics provided an informative talk about chaperone therapy and their ongoing clinical trials for Fabry disease.
The Fabry disease session had more patient/family member participants than other sessions and was rated one of the best sessions in the meeting critiques.
Both the National Fabry Disease Foundation (No photo as Jerry taking the photos) and the Fabry Support and Information Group (FSIG) spoke about the need for continued research to improve current treatment options. There was mutual consent that the Fabry disease community is very grateful to have Enzyme Replacement Therapy, a potentially life-extending and life-saving treatment, but it has limitations.
One of the highlights of the meeting was an appearance by Lyso-man, who was coincidently much the same build and of similar voice characteristics of Dr. Paul Fernhoff.
The NFDF will request electronic copies of some of the presentations that may be helpful to individuals interested in the clinical trial process to post on the website at www.TheNFDF.org.
Our sincerest thanks go to Dr. Paul Fernhoff, Ms. Dawn Laney, the rest of the Emory staff, Dr. Roscoe Brady, other presenters, and the participants who made this meeting a success.
The NFDF
News Category: Fabry disease news & information
Community steps up to help Rindge family
The Keene Sentinel - Keene, NH;
Ten years ago, when David Hill was diagnosed with Fabry’s disease, doctors didn’t expect him to live past 40. Fabry’s disease, a rare genetic disorder
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The full article is no longer available from the online news provider.
News Category: Fabry disease news & information
SWLA's Children's Miracle Network Champions
KPLC.com; Lake Charles, LA; March 18, 2008
12-year-old twins Nathan and Bradley Rowell were diagnosed three years ago with a rare genetic disorder - in fact, they are the only known twins to have Fabry's disease.
Select the link above to read the entire article. The article will open in a seperate webpage. To return to the NFDF website, just close the page when your are finished.
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News Category: Fabry disease news & information
Enzyme replacement improves cardiomyopathy in Anderson-Fabry disease
... Rueters ... February 18, 2008 ...
Enzyme replacement with agalsidase alfa results in regression of hypertrophic cardiomyopathy in patients with Anderson-Fabry disease, an X-linked glycosphingolipid storage disorder caused by alpha-galactosidase A deficiency, according to a report in the February issue of
Heart.
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Me and my IV
... Morris Daily Herald ... January 8, 2008
It's hard to get hooked on the idea of being dependent on IV needles. At first glance, it almost looked like lemonade. It was translucent, but had a dull, yellowish tint. The peculiar liquid filled a small bag, about the size of an adult hand. If one looked too quickly, its presence was overlooked due to the larger intravenous bag that rested near its side.
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